Test Your Knowledge About Eteplirsen for the Treatment of DMD Test Your Knowledge About the Treatment of DMD Test Your Knowledge About the Epidemiology of DMD Test ...

Test Your Knowledge About the Signs and Symptoms of HDFN Test Your Knowledge About the Guidelines for HDFN Test Your Knowledge About Therapies for HDFN Test Your ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

The term muscular dystrophy encompasses a group of genetic diseases characterized by progressive muscle weakness and wasting. There are different types of muscular dystrophy depending on genetic ...

Without extensive newborn screening and gene testing, the Orphan Drug Act does not live up to its potential, a speaker argued at WODC 2024.

Overall, the life expectancy of patients with SCD is lower than that of persons without SCD. 1 However, life expectancy varies depending on the type of disease, treatments administered, and ...

Mother’s Day can be bittersweet when you have a child with a rare disease such as Alagille syndrome (ALGS). Once my son was diagnosed with ALGS, we got the news his liver disease was severe and he ...

Research published online in Neurology found that high-efficacy therapy is more effective than less potent drugs in reducing the number of relapses in secondary progressive multiple sclerosis (MS).

Diagnosis of neurofibromatosis type 1 (NF1) requires a combination of clinical assessment, genetic testing, and imaging studies. 1 NF1 is a rare genetic disorder characterized by the development of ...

Exondys 51 (eteplirsen) is used to treat patients with Duchenne muscular dystrophy (DMD) who have a confirmed mutation in the dystrophin gene that can be treated by skipping exon 51. Exondys 51 was ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

To our knowledge, polycythemia vera coexisting with CANVAS has only been reported in one published case. A case of a patient with cerebellar ataxia with neuropathy and bilateral vestibular areflexia ...